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A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Nagyova, Emilia; Hoorntje, Edgar T; Te Rijdt, Wouter P; Bosman, Laurens P; Syrris, Petros; Protonotarios, Alexandros; Elliott, Perry M; Tsatsopoulou, Adalena; Mestroni, Luisa; Taylor, Matthew R G; Sinagra, Gianfranco; Merlo, Marco; Wada, Yuko; Horie, Minoru; Mogensen, Jens; Christensen, Alex H; Gerull, Brenda; Song, Lei; Yao, Yan; Fan, Siyang; Saguner, Ardan M; Duru, Firat; Koskenvuo, Juha W; Cruz Marino, Tania; Tichnell, Crystal; Judge, Daniel P; Dooijes, Dennis; Lekanne Deprez, Ronald H; Basso, Cristina; Pilichou, Kalliopi; Bauce, Barbara; Wilde, Arthur A M; Charron, Philippe; Fressart, Véronique; van der Heijden, Jeroen F; van den Berg, Maarten P; Asselbergs, Folkert W; James, Cynthia A; Jongbloed, Jan D H; Harakalova, Magdalena; van Tintelen, J Peter.
Affiliation
  • Nagyova E; Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, University of Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands.
  • Hoorntje ET; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University in Bratislava, Bratislava, Slovakia.
  • Te Rijdt WP; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Bosman LP; Netherlands Heart Institute, Utrecht, The Netherlands.
  • Syrris P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Protonotarios A; Netherlands Heart Institute, Utrecht, The Netherlands.
  • Elliott PM; Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, University of Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands.
  • Tsatsopoulou A; Center for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK.
  • Mestroni L; Center for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK.
  • Taylor MRG; Nikos Protonotarios Medical Center, 84300, Naxos, Greece.
  • Sinagra G; Center for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK.
  • Merlo M; Nikos Protonotarios Medical Center, 84300, Naxos, Greece.
  • Wada Y; Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
  • Horie M; Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
  • Mogensen J; Cardiothoracovascular Department, Azienda Sanitaria-Universitaria Giuliano Isontina (ASUGI), Trieste, Italy.
  • Christensen AH; Cardiothoracovascular Department, Azienda Sanitaria-Universitaria Giuliano Isontina (ASUGI), Trieste, Italy.
  • Gerull B; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Song L; Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan.
  • Yao Y; Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan.
  • Fan S; Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark.
  • Saguner AM; Department of Cardiology, Herlev-Gentofte and Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Duru F; Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, Calgary, AB, Canada.
  • Koskenvuo JW; Comprehensive Heart Failure Center (CHFC) and Department of Internal Medicine I, University Hospital Würzburg, Würzburg, Germany.
  • Cruz Marino T; Arrhythmia Center and Clinical EP Laboratory, State Key Laboratory of Cardiovascular Diseases, National Center for Cardiovascular Disease, Fuwai Hospital, Peking Union Medical College-Chinese Academy of Medical Sciences, Beijing, China.
  • Tichnell C; Arrhythmia Center and Clinical EP Laboratory, State Key Laboratory of Cardiovascular Diseases, National Center for Cardiovascular Disease, Fuwai Hospital, Peking Union Medical College-Chinese Academy of Medical Sciences, Beijing, China.
  • Judge DP; Arrhythmia Center and Clinical EP Laboratory, State Key Laboratory of Cardiovascular Diseases, National Center for Cardiovascular Disease, Fuwai Hospital, Peking Union Medical College-Chinese Academy of Medical Sciences, Beijing, China.
  • Dooijes D; Department of Cardiology, University Heart Center, Zurich, Switzerland.
  • Lekanne Deprez RH; Department of Cardiology, University Heart Center, Zurich, Switzerland.
  • Basso C; Blueprint Genetics, Helsinki, Finland.
  • Pilichou K; Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, QC, Canada.
  • Bauce B; Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, USA.
  • Wilde AAM; Division of Cardiology, Department of Medicine, Medical University of South Carolina, Charleston, USA.
  • Charron P; Department of Genetics, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands.
  • Fressart V; .
  • van der Heijden JF; .
  • van den Berg MP; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Asselbergs FW; .
  • James CA; Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Padua, Italy.
  • Jongbloed JDH; .
  • Harakalova M; Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Padua, Italy.
  • van Tintelen JP; Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Padua, Italy.
J Cardiovasc Transl Res ; 16(6): 1276-1286, 2023 Dec.
Article in En | MEDLINE | ID: mdl-37418234
ABSTRACT
The presence of multiple pathogenic variants in desmosomal genes (DSC2, DSG2, DSP, JUP, and PKP2) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to a severe phenotype. However, the pathogenicity of variants is reclassified frequently, which may result in a changed clinical risk prediction. Here, we present the collection, reclassification, and clinical outcome correlation for the largest series of ARVC patients carrying multiple desmosomal pathogenic variants to date (n = 331). After reclassification, only 29% of patients remained carriers of two (likely) pathogenic variants. They reached the composite endpoint (ventricular arrhythmias, heart failure, and death) significantly earlier than patients with one or no remaining reclassified variant (hazard ratios of 1.9 and 1.8, respectively). Periodic reclassification of variants contributes to more accurate risk stratification and subsequent clinical management strategy. Graphical Abstract.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arrhythmogenic Right Ventricular Dysplasia Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Cardiovasc Transl Res Journal subject: ANGIOLOGIA / CARDIOLOGIA Year: 2023 Document type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arrhythmogenic Right Ventricular Dysplasia Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Cardiovasc Transl Res Journal subject: ANGIOLOGIA / CARDIOLOGIA Year: 2023 Document type: Article Affiliation country: Netherlands